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NM_018216.4(PANK4):c.601G>T (p.Val201Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 3, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004650839.1

Allele description [Variation Report for NM_018216.4(PANK4):c.601G>T (p.Val201Leu)]

NM_018216.4(PANK4):c.601G>T (p.Val201Leu)

Gene:
PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_018216.4(PANK4):c.601G>T (p.Val201Leu)
HGVS:
  • NC_000001.11:g.2520728C>A
  • NM_018216.4:c.601G>TMANE SELECT
  • NP_060686.3:p.Val201Leu
  • NC_000001.10:g.2452167C>A
  • NM_018216.1:c.601G>T
Protein change:
V201L
Molecular consequence:
  • NM_018216.4:c.601G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005149264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 3, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005149264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.601G>T (p.V201L) alteration is located in exon 4 (coding exon 4) of the PANK4 gene. This alteration results from a G to T substitution at nucleotide position 601, causing the valine (V) at amino acid position 201 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024